A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10550045



Internal ID4038829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76816761..76897232hg38UCSC Ensembl
chr2:77043887..77124358hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3880472
hg1980472
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591337
Supporting Variants
SamplesHG03687
Known GenesLRRTM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10550045
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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